Yayınlar & Eserler

Yayın Ağı
Makaleler 20
Tümü (20)
SCI-E, SSCI, AHCI (20)
SCI-E, SSCI, AHCI, ESCI (20)
Scopus (19)
TRDizin (1)

1. Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis

KURT C. E., Aksu-Menges E., Kumtepe E. T., DURMAZ ÖZDİNÇ C. D., Terzi Y. K., ERGÜL ÜLGER Z., et al.
BMC NEUROLOGY , cilt.25, sa.1, 2025 (SCI-Expanded, Scopus) identifier identifier

2. Alu-Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect

DURMAZ ÖZDİNÇ C. D., GÜMRÜK F., Celkan T., Unal S., ÇETİNKAYA A.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , 2024 (SCI-Expanded, Scopus) identifier identifier identifier

3. Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease

Bas H., DURMAZ ÖZDİNÇ C. D., Tombak M. C., ÇETİN G. O., Karaer K.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.194, sa.9, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

4. Novel nonsense CAST mutation in two siblings with PLACK syndrome

DURMAZ ÖZDİNÇ C. D., Tekmenuray-Unal A.
International Journal of Dermatology , cilt.62, sa.10, ss.1295-1299, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

5. Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)

Ili E. G., Tasdelen E., Durmaz C. D., ALTINER Ş., TUNCALI T., Martinez-Glez V., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.188, sa.6, ss.1792-1800, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

6. Undifferentiated Melanoma Resembling Undifferentiated Round Cell Sarcoma: The Diagnostic Power of Molecular Melanoma Signature

KAVUNCUOĞLU A., DURMAZ ÖZDİNÇ C. D., GÖKÖZ Ö., ÜNER A., KÖSEMEHMETOĞLU K.
INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY , cilt.30, sa.3, ss.346-349, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

7. Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency

Durmaz C. D., ALTINER Ş., Tasdelen E., KARABULUT H. G., ILGIN RUHİ H.
FETAL AND PEDIATRIC PATHOLOGY , cilt.40, sa.5, ss.486-492, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

8. MASP1-related 3MC syndrome in a patient from Turkey

Durmaz C. D., Altiner S.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.7, ss.2267-2270, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

9. Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A > C(c.1957-2A > C) Mutation in the GLI2 Gene

Demiral M., DEMİRBİLEK H., Unal E., Durmaz C. D., Ceylaner S., Ozbek M. N.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.12, sa.3, ss.319-328, 2020 (SCI-Expanded, Scopus, TRDizin) Creative Commons License identifier identifier identifier

10. Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa

Ertop P., Vural S., Ili E. G., Durmaz C. D., HEPER A., McGrath J. A., et al.
INTERNATIONAL JOURNAL OF DERMATOLOGY , cilt.59, sa.7, ss.851-855, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

11. H syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skin

An I., Durmaz C. D., ILGIN RUHİ H., Ertop P., Ozturk M., Sula B., et al.
HONG KONG JOURNAL OF DERMATOLOGY & VENEREOLOGY , cilt.27, sa.3, ss.137-140, 2019 (SCI-Expanded, Scopus) identifier identifier

12. Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study

VURAL S., Gundogdu M., Illi E. G., Durmaz C. D., Vural A., Steinmuller-Magin L., et al.
BRITISH JOURNAL OF DERMATOLOGY , cilt.180, sa.6, ss.1459-1467, 2019 (SCI-Expanded, Scopus) identifier identifier identifier

13. Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

USLU YURTERİ E., Durmaz C. D., KARABULUT H. G., Seifert W., Horn D., AKKAYA Z., et al.
CYTOGENETIC AND GENOME RESEARCH , cilt.158, sa.3, ss.126-132, 2019 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

14. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

White J. J., Mazzeu J. F., Coban-Akdemir Z., Bayram Y., Bahrambeigi V., Hoischen A., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.102, sa.1, ss.27-43, 2018 (SCI-Expanded, Scopus) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

15. A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome

Durmaz C. D., Evans G., Smith M. J., Ertop P., AKAY B., TUNCALI T.
CYTOGENETIC AND GENOME RESEARCH , cilt.154, sa.2, ss.57-61, 2018 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

16. A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

Durmaz C. D., McGrath J., Liu L., KARABULUT H. G.
CYTOGENETIC AND GENOME RESEARCH , cilt.154, sa.3, ss.119-121, 2018 (SCI-Expanded, Scopus) identifier identifier identifier

17. Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature

Tasdelen E., Durmaz C. D., KARABULUT H. G.
CYTOGENETIC AND GENOME RESEARCH , cilt.154, sa.4, ss.181-186, 2018 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

18. Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene

Vural S., Ertop P., Durmaz C. D., ŞANLI H., HEPER A., KUNDAKCI N., et al.
CYTOGENETIC AND GENOME RESEARCH , cilt.151, sa.4, ss.186-190, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

19. Bilateral choanal atresia in an adult woman with pycnodysostosis

Durmaz C. D., Tas V., Kocaay P., FİTOZ Ö. S., Onay H., BETON S., et al.
CONGENITAL ANOMALIES , cilt.57, sa.3, ss.91-92, 2017 (SCI-Expanded) identifier identifier

20. Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report

Durmaz C. D., Yararbas K., KUTLAY N., Turedi O., Akin I., Gurbuz C., et al.
CYTOGENETIC AND GENOME RESEARCH , cilt.148, sa.1, ss.19-24, 2016 (SCI-Expanded, Scopus) identifier identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 3

1. Long overdue diagnosis for Turner syndrome: evaluation of two cases

ILGIN RUHİ H., Durmaz C. D., LEBLEBİCİ C. B., ALTINER Ş.
56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.245-246, (Özet Bildiri) identifier

2. Comprehensive approach focusing on the molecular profile of a rare genodermatosis: Epidermodysplasia Verruciformis

ERKAN D. D., Akcin O., DURMAZ ÖZDİNÇ C. D., ATEŞ ÖZDEMİR D., GÜLERAY LAFCI N., DİZDAR Ö.
56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.397, (Özet Bildiri) identifier

3. Pyrin mutations in complex hidradenitis suppurativa

Vural S., Gundogdu M., Ili E. G., Durmaz C. D., Vural A., Steinmueller-Magin L., et al.
Annual Meeting of the British-Society-for-Investigative-Dermatology, Bradford, İngiltere, 1 - 03 Nisan 2019, cilt.180, (Özet Bildiri) identifier
Metrikler

Yayın

23

Yayın (WoS)

23

Yayın (Scopus)

19

Atıf (WoS)

118

H-İndeks (WoS)

5

Atıf (Scopus)

118

H-İndeks (Scopus)

5

Proje

4

Açık Erişim

5
BM Sürdürülebilir Kalkınma Amaçları